Results 211 to 220 of about 110,880 (279)

Improving newborn screening accuracy through genome sequencing, targeted metabolomics, and machine learning. [PDF]

BMC Med Genomics
Xie Y, Peng G, Tikhonova I, Enns G, Zhao H, Cowan T, Scharfe C.   +6 more
europepmc   +1 more source

WS21.6 11 years of newborn screening (NBS): the experience in Tuscany, Italy

, 2012
T. Repetto, L. Zavataro, Gianfranco Mergni, Ileana Fusco, Noemi Vignoli, R. Pasotto, Elisabetta Pelo, Claudia Centrone, Federica Torricelli, C. Braggion   +9 more
openalex   +1 more source

Revising Fascial Anatomy With a Focus on the Fusion Fascia in Mesenteric Gastrointestinal Cancer Surgery

Annals of Gastroenterological Surgery, EarlyView.
This review critically reassesses our prior hypothesis and proposes a revised anatomical model of the fusion fascia that is broadly applicable to GI cancer surgeries grounded in the principles of mesenteric resection. Our synthesis suggests that the fusion fascia is neither a dense connective tissue membrane nor a remnant of mesothelial fusion, but ...
Hisashi Shinohara, Yasunori Kurahashi, Jun Watanabe, Yuichi Nagakawa, Tatsuro Nakamura, Eiichiro Nakao, Yudai Hojo, Shugo Kohno, Motoki Murakami, Yoshinori Ishida   +9 more
wiley   +1 more source

Neonatal Respiration Monitoring System with Synchronized Oxygen Supply and Machine Learning‐Based Breathing Classification

Advanced Intelligent Systems, EarlyView.
The study presents a low‐cost, noninvasive system for real‐time neonatal respiratory monitoring. A flexible, screen‐printed sensor patch captures chest movements with high sensitivity and minimal drift. Combined with machine learning, the system accurately detects breathing patterns and offers a practical solution for neonatal care in low‐resource ...
Gitansh Verma, Eugen Koch, Andreas Dietzel, Shrutidhara Sarma   +3 more
wiley   +1 more source

Too Early to Tell? Balancing Diagnostic Accuracy of Newborn Screening for Propionic Acidemia Versus a Timely Referral. [PDF]

Int J Neonatal Screen
Meijer NWF, Huidekoper HH, Koop K, Fuchs SA, Heiner Fokkema MR, Lubout CMA, Haijer-Schreuder AB, Visser WF, Verschoof-Puite RK, Dekkers E, Bosch AM, Maase RE, de Sain-van der Velden MGM.   +12 more
europepmc   +1 more source

Proteomic Analysis of Golden Sputum Reveals Pulmonary Complement Activation During Acute Chest Syndrome in Children With Sickle Cell Disease

American Journal of Hematology, EarlyView.
ABSTRACT Acute chest syndrome (ACS) is one of the most common severe complications of sickle cell disease (SCD). In recent years, a major role of inflammation and innate immunity has been evidenced, but ACS pathophysiology remains incompletely understood, and therapeutic options are limited.
Slimane Allali, Nabiha Sbeih, Rachel Rignault‐Bricard, Johanna Bruce, Morgane Le Gall, Claire Heilbronner, Noemie de Cacqueray, Sofia Angyalosy, Melissa Taylor, Joséphine Brice, Mariane de Montalembert, Martina Bevacqua, Emilie‐Fleur Gautier, Olivier Hermine, Thiago Trovati Maciel   +14 more
wiley   +1 more source

Newborn screening for SCID and severe T- and B-cell lymphopenia in Ukraine: the first analysis of the results, 2022-2025. [PDF]

Front Immunol
Boyarchuk O, Makukh H, Volokha A, Bondarenko A, Mytsyk N, Barvinska O, Shymanska I, Pohuliai Y, Veropotvelyan M, Haviley A, Hurina M, Romanyshyn Y, Trophymova M, Hrabovska I, Malko O, Tsanko T, Tykholaz O, Lysytsia O, Samonenko N, Olkhovych N.   +19 more
europepmc   +1 more source

Effect of Red Blood Cell Transfusion on Inflammatory and Angiogenic Pathways in Patients With Sickle Cell Disease

American Journal of Hematology, EarlyView.
ABSTRACT Sickle cell disease (SCD) is a chronic inflammatory state, characterized by increased plasma values of inflammatory and angiogenic proteins. Although red blood cell (RBC) transfusion is known to have immunomodulatory effects in other conditions, its potential effects on the inflammatory state in SCD remain largely unknown.
Lydian A. de Ligt, Sanjay R. Thakoerdin, Maud Zwolsman, Gaby Stegemann, Hanke Matlung, Taco W. Kuijpers, Bart J. Biemond, Karin Fijnvandraat, Robin van Bruggen, Erfan Nur   +9 more
wiley   +1 more source

Quebec Spinal Muscular Atrophy Newborn Screening Program: The First Year Experience. [PDF]

Int J Neonatal Screen
Groulx-Boivin E, Belzile A, Nguyen CÉ, Gauthier A, Chrestian N, Michaud-Gosselin C, Giguère Y, Berthier MT, Soucy JF, Laberge AM, Oskoui M.   +10 more
europepmc   +1 more source

Autosomal Dominant Erythrocytosis Caused by Non‐Renal Erythropoietin (EPO) Due to EPO c.‐136 G>A Germline Mutation

American Journal of Hematology, EarlyView.
A novel erythropoietin (EPO) promoter mutation (c.‐136 G>A) causes autosomal dominant erythrocytosis via non‐renal expression of EPO. ABSTRACT We previously reported a five‐generation kindred with autosomal dominant erythrocytosis associated with a novel germline promoter variant in the erythropoietin (EPO) gene (EPO c.‐136 G>A).
Lucie Lanikova, Dusan Hrckulak, Veronika Zimolova, Felipe R. Lorenzo, Jihyun Song, Katerina Vecerkova, Olga Babosova, Linda Berkova, Vladimir Korinek, Steve Elliott, Josef T. Prchal   +10 more
wiley   +1 more source